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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 9-135792085-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135792085&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 135792085,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000371757.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3632C>G",
"hgvs_p": "p.Ser1211Cys",
"transcript": "NM_020822.3",
"protein_id": "NP_065873.2",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3632,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3706,
"cdna_end": null,
"cdna_length": 7123,
"mane_select": "ENST00000371757.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3632C>G",
"hgvs_p": "p.Ser1211Cys",
"transcript": "ENST00000371757.7",
"protein_id": "ENSP00000360822.2",
"transcript_support_level": 1,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3632,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3706,
"cdna_end": null,
"cdna_length": 7123,
"mane_select": "NM_020822.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.*3305C>G",
"hgvs_p": null,
"transcript": "ENST00000460750.5",
"protein_id": "ENSP00000418777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.*3305C>G",
"hgvs_p": null,
"transcript": "ENST00000460750.5",
"protein_id": "ENSP00000418777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3695C>G",
"hgvs_p": "p.Ser1232Cys",
"transcript": "ENST00000487664.5",
"protein_id": "ENSP00000417851.2",
"transcript_support_level": 5,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 3769,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3638C>G",
"hgvs_p": "p.Ser1213Cys",
"transcript": "ENST00000631073.2",
"protein_id": "ENSP00000486130.1",
"transcript_support_level": 5,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1237,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 3646,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3632C>G",
"hgvs_p": "p.Ser1211Cys",
"transcript": "ENST00000490355.6",
"protein_id": "ENSP00000418003.3",
"transcript_support_level": 5,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3632,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3632,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3617C>G",
"hgvs_p": "p.Ser1206Cys",
"transcript": "ENST00000488444.6",
"protein_id": "ENSP00000419007.3",
"transcript_support_level": 5,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3620,
"cdna_end": null,
"cdna_length": 3696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3596C>G",
"hgvs_p": "p.Ser1199Cys",
"transcript": "ENST00000263604.5",
"protein_id": "ENSP00000263604.4",
"transcript_support_level": 5,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3596,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3712,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3578C>G",
"hgvs_p": "p.Ser1193Cys",
"transcript": "ENST00000486577.6",
"protein_id": "ENSP00000417578.3",
"transcript_support_level": 5,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3578,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3684,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3575C>G",
"hgvs_p": "p.Ser1192Cys",
"transcript": "ENST00000491806.6",
"protein_id": "ENSP00000419086.3",
"transcript_support_level": 5,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3560C>G",
"hgvs_p": "p.Ser1187Cys",
"transcript": "NM_001272003.2",
"protein_id": "NP_001258932.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 7051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3560C>G",
"hgvs_p": "p.Ser1187Cys",
"transcript": "ENST00000628528.2",
"protein_id": "ENSP00000486374.1",
"transcript_support_level": 2,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 7057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3536C>G",
"hgvs_p": "p.Ser1179Cys",
"transcript": "ENST00000674572.1",
"protein_id": "ENSP00000501742.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3536,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 3803,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3530C>G",
"hgvs_p": "p.Ser1177Cys",
"transcript": "ENST00000630792.2",
"protein_id": "ENSP00000486486.1",
"transcript_support_level": 5,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3530,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3530,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3452C>G",
"hgvs_p": "p.Ser1151Cys",
"transcript": "ENST00000676421.1",
"protein_id": "ENSP00000502322.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3452,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3536,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3443C>G",
"hgvs_p": "p.Ser1148Cys",
"transcript": "ENST00000675399.1",
"protein_id": "ENSP00000501932.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3443,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3533,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3380C>G",
"hgvs_p": "p.Ser1127Cys",
"transcript": "ENST00000675090.1",
"protein_id": "ENSP00000501833.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3380,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3776C>G",
"hgvs_p": "p.Ser1259Cys",
"transcript": "XM_011518878.4",
"protein_id": "XP_011517180.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3776,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3776,
"cdna_end": null,
"cdna_length": 7193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3767C>G",
"hgvs_p": "p.Ser1256Cys",
"transcript": "XM_011518879.4",
"protein_id": "XP_011517181.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3767,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3767,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3629C>G",
"hgvs_p": "p.Ser1210Cys",
"transcript": "XM_017014931.2",
"protein_id": "XP_016870420.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3629,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3644,
"cdna_end": null,
"cdna_length": 7061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.3596C>G",
"hgvs_p": "p.Ser1199Cys",
"transcript": "XM_011518880.2",
"protein_id": "XP_011517182.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3596,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3616,
"cdna_end": null,
"cdna_length": 7033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "KCNT1",
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{
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}
],
"gene_symbol": "KCNT1",
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"dbsnp": "rs752729337",
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"computational_score_selected": 0.061718642711639404,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.725,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000371757.7",
"gene_symbol": "KCNT1",
"hgnc_id": 18865,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3632C>G",
"hgvs_p": "p.Ser1211Cys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_007061851.1",
"gene_symbol": "LOC107987140",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-44G>C",
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}
],
"clinvar_disease": " 14,Autosomal dominant nocturnal frontal lobe epilepsy 5,Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"phenotype_combined": "Developmental and epileptic encephalopathy, 14;Autosomal dominant nocturnal frontal lobe epilepsy 5|not provided|Developmental and epileptic encephalopathy, 14|Autosomal dominant nocturnal frontal lobe epilepsy 5|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}